Global Variome shared LOVD

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Phenotype #0000324786 Individual ID 00434451 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease, neonatal Diagnosis/Definite NPC1 Phenotype details jaundiced neonatal liver disease; hepatosplenomegaly; cataplexy, epilepsy; vertical gaze palsy; delayed development; severe ataxia; no swallowing problems Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-04-01 17:36:26 +02:00 (CEST) Date last edited N/A

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